| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare genetic autoinflammatory syndrome with immune deficiency disease characterised by recurrent and severe flares of generalised pustular psoriasis associated with high fever, asthenia and systemic inflammation due to IL36R antagonist deficiency. Psoriatic nail changes (for example pitting and onychomadesis) and ichthyosis may occasionally be associated. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Myelin oligodendrocyte glycoprotein antibody-associated disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Mouth and genital ulcers with inflamed cartilage syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Polyclonal hyperviscosity syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Ubiquitin specific peptidase 18 deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Occlusion of microvasculature of skin caused by cryoglobulin type III |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Drug-induced palmoplantar pustular psoriasis |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Follicular psoriasis |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Hypopigmentation-immunodeficiency disease type 1 (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Hypopigmentation-immunodeficiency disease type 3 (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Plaque psoriasis with pustules |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Castleman disease with immunoglobulin M monoclonal gammopathy of uncertain significance |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Autonomic disorder due to multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autonomic disorder due to multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Wasting syndrome due to acquired immunodeficiency syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the KIT D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| Lymphoproliferative disorder following transplantation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Lymphoproliferative disorder caused by methotrexate |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Lymphoproliferative disorder after transplantation of bone marrow |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Early post-transplant lymphoproliferative disorder (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Infectious mononucleosis-like post-transplant lymphoproliferative disorder (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Monomorphic posttransplant lymphoproliferative disorder (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Reactive plasmacytic hyperplasia post-transplant lymphoproliferative disorder (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Polymorphic lymphoproliferative disorder following transplant (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Graft versus host disease of intestine (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare primary immunodeficiency characterised by a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Leukocyte adhesion deficiency type 3 (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Glutathione synthetase deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Glutathione synthase deficiency without 5-oxoprolinuria |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Gamma heavy chain disease (clinical) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Heavy chain disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Mu heavy chain disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Aseptic peritoneal eosinophilia after dialysis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Common variable agammaglobulinaemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Common variable immunodeficiency with predominant immunoregulatory T-cell disorders (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Common variable immunodeficiency with autoantibodies to B- or T-cells (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Fanconi anemia of complementation group C |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Common variable immunodeficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Pancytopenia caused by colchicine (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Pancytopenia caused by non-steroidal anti-inflammatory agent (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Graft-versus-host disease following transplant of kidney (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acute graft-versus-host disease following transplant of kidney |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Congenital cutaneous mastocytosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Immunodeficiency caused by long term therapeutic use of immunosuppressant (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Macrophage activation syndrome due to infectious disease (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Haploinsufficiency of A20 |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Hereditary paediatric Behçet-like disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Glutathione synthase deficiency with 5-oxoprolinuria |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Atypical haemolytic uraemic syndrome with complement gene abnormality |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorisation of the syndrome may be complicated due to the involvement of multiple genes. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Adult onset Still's disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Schnitzler syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Urticarial vasculitis with monoclonal IgM component, Schnitzler |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| SAPHO syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Atypical hemolytic uremic syndrome with anti-factor H antibodies |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Type I interferonopathy |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Aicardi Goutieres syndrome type 2 (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Aicardi Goutieres syndrome type 3 (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Aicardi Goutieres syndrome type 4 |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Aicardi Goutieres syndrome type 5 (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Aicardi Goutieres syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Aicardi Goutieres syndrome type 1 (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| STING-associated vasculopathy with onset in infancy |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Heavy chain deposition disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Heavy chain deposition disease |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Autosomal recessive agammaglobulinemia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| X-linked agammaglobulinaemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Isolated agammaglobulinemia |
Pathological process (attribute) |
False |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Simple pulmonary eosinophilia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Spondyloenchondrodysplasia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Singleton-Merten syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Trichohepatoenteric syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acute generalized exanthematous pustulosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Maculopapular cutaneous mastocytosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Telangiectasia macularis eruptiva perstans |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
| A rare scleritis characterized by severe ocular inflammation of sclera associated with an underlying systemic inflammatory condition, most often rheumatoid arthritis, granulomatosis with polyangiitis, but also seronegative spondyloarthropathies, vasculitides and systemic lupus erythematosus. Ocular presentation is a tender or painful, violet-blueish eye, with injection of deep scleral vessels. It can be unilateral or bilateral. Immune-mediated scleritis is more often granulomatous and/or necrotizing. Systemic clinical signs depend on the underlying disease. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Scleritis due to granulomatosis with polyangiitis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Severe combined immunodeficiency due to CORO1A deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Severe combined immunodeficiency due to LAT deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Combined immunodeficiency due to RELA haploinsufficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Keratitis fugax hereditaria |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Keratitis fugax hereditaria |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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